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June 9, 2026Neurology

From Unknown to Pathogenic: A Case of Cerebellar Ataxia due to RAB3A Variant (P5-16.001)

Kalyn Dyer Deepal Shah-Zamora Jennifer Harmon Aubrey Hite

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Key Points

This case aims to illustrate the connection between cerebellar ataxia and a pathogenic variant in RAB3A, emphasizing the need for timely genetic testing.
Detailed clinical evaluation of a patient with cerebellar ataxia
Genetic analysis to identify RAB3A variant
The identified RAB3A variant was confirmed as pathogenic, correlating with the patient's symptoms.
Emphasizes the necessity of early genetic testing for accurate diagnosis and management.

Implication

Case report describes cerebellar ataxia from RAB3A variant, highlighting need for genetic testing.

Abstract

To describe a case of cerebellar ataxia due to a pathogenic variant in RAB3A and the importance of earlier comprehensive genetic testing.

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Cite This Study

Dyer et al. (2026) studied this question.

synapsesocial.com/papers/6a2cf32afaef96ed7f055a68 https://doi.org/10.1212/wnl.0000000000216479

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